ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827019853
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468083
ClinVar RCV Id:
RCV000550016
RCV001569152
RCV002330903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1394Ala
CA050903
NM_001318832.2:c.4180C>G